ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828848052
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000193768
RCV000399209
RCV000430886
RCV000625875
RCV000717282
RCV001084017
RCV001847862
RCV004530127
ClinVar Variation:
211288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Ala1527Val
CA207477
NM_001379632.1:c.4580C>T